Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Table 2 Biochemical findings in MSD patients

Patients	1	2	3	4	5	6	7	8	9	10
Sulfatases (% of control)
ArsA	4	14	10	5	3	3	5	2	8	7
ArsB	16	13	6	5	ND	7	ND	9	4	ND
ArsC	15	6	ND	4	ND	2	ND	ND	7	ND
IDS	7	3	4	2	20	ND	3	1	ND	0
SGSH	ND	19	ND	ND	ND	ND	ND	0.5	ND	0
G6S	ND	0	ND	ND	ND	ND	ND	ND	ND	2
GalNS	ND	5	ND	ND	28	2	ND	ND	ND	ND
Mean	11	9	7	4	17	4	4	3	6	2
Urinary GAG (mg/mmol creatinine)	0.1; 0.2		GAG: 18.8; 14.4	GAG: 0.3	GAG: 18.1; 11	ND	GAG: 12.5	ND	GAG: 22	GAG: 33
	(control: <1.8)		(control: <13)	(control: <2.6)	(control: <13)		(control: <3.3)		(control: <8)	(control: <6.3)
	HS: 20%;	HS:+++	HS: traces				HS++++; CS+++		HS: 88.5%;	HS+++; CS+++
	CS: 80%;	DS: +++					DS+; KS: traces		CS: 11.5%; no	DS++; no KS
	no DS								DS; no KS
Urinary sulfatides (nmol/mmol creatinine)	88 (control: < 40)	positive	ND	positive	263 (control: < 40)	ND	ND	ND	ND	ND

Sulfatase activities were determined on lysates of peripheral blood leukocytes, and are expressed as percentage of the values measured in control samples. Abnormal urinary excretion of glycosaminoglycans and sulfatides is indicated (note that distinct methods were employed by different laboratories). Abbreviations: ArsA arylsulfatase A, ArsB arylsulfatase B, ArsC arylsulfatase C, IDS iduronate 2-sulfatase, SGSH N-sulfoglucosamine sulfohydrolase, G6S glucosamine 6-sulfatase, GalNS galactosamine 6-sulfatase, GAG glycosaminoglycans, HS heparan sulfate, DS dermatan sulfate, KS keratan sulfate, CS chondroitin sulphate, ND not determined.

ISSN: 1750-1172